Incidental Mutation 'R6759:Fgl2'
ID |
531133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgl2
|
Ensembl Gene |
ENSMUSG00000039899 |
Gene Name |
fibrinogen-like protein 2 |
Synonyms |
|
MMRRC Submission |
044875-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R6759 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21577671-21583384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21578256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 181
(D181G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000035799]
[ENSMUST00000115245]
|
AlphaFold |
P12804 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
SMART Domains |
Protein: ENSMUSP00000030552 Gene: ENSMUSG00000064280
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035799
AA Change: D181G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000046131 Gene: ENSMUSG00000039899 AA Change: D181G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
71 |
158 |
N/A |
INTRINSIC |
FBG
|
201 |
428 |
1.6e-131 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
|
SMART Domains |
Protein: ENSMUSP00000110900 Gene: ENSMUSG00000064280
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (49/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolongedsurvival of heart grafts. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,166,401 (GRCm39) |
I94M |
possibly damaging |
Het |
Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
Efr3b |
T |
A |
12: 4,034,613 (GRCm39) |
N186Y |
probably damaging |
Het |
Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Strn4 |
A |
T |
7: 16,556,978 (GRCm39) |
E145V |
probably damaging |
Het |
Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
Uty |
G |
T |
Y: 1,174,735 (GRCm39) |
L222I |
probably damaging |
Homo |
Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
probably damaging |
Het |
Zfp40 |
C |
T |
17: 23,395,510 (GRCm39) |
R359H |
possibly damaging |
Het |
|
Other mutations in Fgl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01622:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01623:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02056:Fgl2
|
APN |
5 |
21,580,543 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03128:Fgl2
|
APN |
5 |
21,578,291 (GRCm39) |
missense |
probably benign |
|
A4554:Fgl2
|
UTSW |
5 |
21,577,776 (GRCm39) |
missense |
probably benign |
0.01 |
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Fgl2
|
UTSW |
5 |
21,580,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0316:Fgl2
|
UTSW |
5 |
21,580,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1336:Fgl2
|
UTSW |
5 |
21,578,181 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1703:Fgl2
|
UTSW |
5 |
21,577,730 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1893:Fgl2
|
UTSW |
5 |
21,580,669 (GRCm39) |
missense |
probably benign |
0.01 |
R2371:Fgl2
|
UTSW |
5 |
21,580,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Fgl2
|
UTSW |
5 |
21,580,918 (GRCm39) |
missense |
probably benign |
0.00 |
R5250:Fgl2
|
UTSW |
5 |
21,580,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5422:Fgl2
|
UTSW |
5 |
21,580,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Fgl2
|
UTSW |
5 |
21,578,229 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7812:Fgl2
|
UTSW |
5 |
21,577,896 (GRCm39) |
missense |
probably benign |
0.01 |
R7838:Fgl2
|
UTSW |
5 |
21,577,752 (GRCm39) |
missense |
probably benign |
0.01 |
R8177:Fgl2
|
UTSW |
5 |
21,578,307 (GRCm39) |
critical splice donor site |
probably null |
|
R8725:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
R8727:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
R9114:Fgl2
|
UTSW |
5 |
21,580,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:Fgl2
|
UTSW |
5 |
21,577,920 (GRCm39) |
missense |
probably damaging |
0.96 |
R9513:Fgl2
|
UTSW |
5 |
21,580,790 (GRCm39) |
nonsense |
probably null |
|
R9606:Fgl2
|
UTSW |
5 |
21,577,991 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0017:Fgl2
|
UTSW |
5 |
21,580,650 (GRCm39) |
missense |
probably damaging |
0.98 |
X0026:Fgl2
|
UTSW |
5 |
21,580,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGTTGCAGGCTGACGACC -3'
(R):5'- TCCTGCCATAACTTAACAGGTG -3'
Sequencing Primer
(F):5'- AGGCTGACGACCATCGAGATC -3'
(R):5'- GAAAGTCTGACTAACTTATGCTCCC -3'
|
Posted On |
2018-08-01 |